| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Proximal Myopathy with Focal Depletion of Mitochondria | CHKB | disease | C1833453 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Proximal Myopathy with Focal Depletion of Mitochondria | CHKB | disease | C1833453 | GeneticVariation | 0.32 | orphanet , disgenet |
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